Table 3.
Cosegregation analysis of variants in SLC20A2
| Family members with variant | Family members without variant | ||||||
|---|---|---|---|---|---|---|---|
| IBGC Family | Proband Variant | Affected | Unaffected | Unknown | Affected | Unaffected | Unknown |
| F1 | c.508delT | 9 | 2 | 2 | 8 | 10 | |
| F2 | c.1828 1831delTCCC | 9 | 1 | 1 | 6 | 13 | |
| F5 | c.583 584delGT | 8 | 2 | 2 | 4 | ||
| F7 | c.1523+1G > A c.1145G > A | 6 | 1 | 5 | |||
| F9 | c.1794+1G > A | 6 | 1 | 2 | |||
| F15 | c.760C> T | 2 | 1 | ||||
| F19 | c.1703C> T | 1 | 1 | ||||
| F18 | c.1101C> G | 1 | 1 | ||||
| F20 | c.1652G> A | 2 | |||||
| F22 | c.514A> T | 1 | |||||
| F23 | c.1802C> T | 1 | |||||
| F24 | c.1506C> A | 1 | |||||
| F29 | c.1794+1G > C | 1 | |||||
Numbers of subjects in each category are reported by SLC20A2 variant status. Shaded cells highlight possible cosegregation mismatches